@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP408829.RADbDnSV1r8ela6kTdI8c1lMEJRhzQ5SUDh2yt2Uqmmi4
> .
@prefix rdfs: <
http://www.w3.org/2000/01/rdf-schema#
> .
@prefix xsd: <
http://www.w3.org/2001/XMLSchema#
> .
@prefix sio: <
http://semanticscience.org/resource/
> .
@prefix ncit: <
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#
> .
@prefix lld: <
http://linkedlifedata.com/resource/umls/id/
> .
@prefix miriam-gene: <
http://identifiers.org/ncbigene/
> .
@prefix miriam-pubmed: <
http://identifiers.org/pubmed/
> .
@prefix eco: <
http://purl.obolibrary.org/obo/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@prefix prv: <
http://purl.org/net/provenance/ns#
> .
@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix np: <
http://www.nanopub.org/nschema#
> .
@prefix dgn-np: <
http://rdf.disgenet.org/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
dgn-np:NP408829.RADbDnSV1r8ela6kTdI8c1lMEJRhzQ5SUDh2yt2Uqmmi4130_head
{
this:
np:hasAssertion
dgn-np:NP408829.RADbDnSV1r8ela6kTdI8c1lMEJRhzQ5SUDh2yt2Uqmmi4130_assertion
;
np:hasProvenance
dgn-np:NP408829.RADbDnSV1r8ela6kTdI8c1lMEJRhzQ5SUDh2yt2Uqmmi4130_provenance
;
np:hasPublicationInfo
dgn-np:NP408829.RADbDnSV1r8ela6kTdI8c1lMEJRhzQ5SUDh2yt2Uqmmi4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP408829.RADbDnSV1r8ela6kTdI8c1lMEJRhzQ5SUDh2yt2Uqmmi4130_assertion
a
np:Assertion
.
dgn-np:NP408829.RADbDnSV1r8ela6kTdI8c1lMEJRhzQ5SUDh2yt2Uqmmi4130_provenance
a
np:Provenance
.
dgn-np:NP408829.RADbDnSV1r8ela6kTdI8c1lMEJRhzQ5SUDh2yt2Uqmmi4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP408829.RADbDnSV1r8ela6kTdI8c1lMEJRhzQ5SUDh2yt2Uqmmi4130_assertion
{
miriam-gene:10205
a
ncit:C16612
.
lld:C0271829
a
ncit:C7057
.
dgn-gda:DGN5e4a2b086cc32d1d3fd0c738b6c34ebb
sio:SIO_000628
miriam-gene:10205
,
lld:C0271829
;
a
sio:SIO_001121
.
}
dgn-np:NP408829.RADbDnSV1r8ela6kTdI8c1lMEJRhzQ5SUDh2yt2Uqmmi4130_provenance
{
dgn-np:NP408829.RADbDnSV1r8ela6kTdI8c1lMEJRhzQ5SUDh2yt2Uqmmi4130_assertion
dcterms:description
"[The presence of two mutant alleles of SLC26A4 is correlated with bilateral EVA and Pendred syndrome, whereas unilateral EVA and NSEVA are correlated with one (M1) or zero (M0) mutant alleles of SLC26A4.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_literature
;
sio:SIO_000772
miriam-pubmed:22116369
;
prov:wasDerivedFrom
dgn-void:befree-20140225
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
xsd:date
.
dgn-void:source_evidence_literature
a
eco:ECO_0000212
;
rdfs:comment
"Gene-disease associations inferred from text-mining the literature."@en ;
rdfs:label
"DisGeNET evidence - LITERATURE"@en .
}
dgn-np:NP408829.RADbDnSV1r8ela6kTdI8c1lMEJRhzQ5SUDh2yt2Uqmmi4130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:03+02:00"^^
xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
;
dcterms:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetrdf
;
pav:authoredBy
<
http://orcid.org/0000-0001-5999-6269
> , <
http://orcid.org/0000-0002-7534-7661
> , <
http://orcid.org/0000-0002-9383-528X
> , <
http://orcid.org/0000-0003-0169-8159
> , <
http://orcid.org/0000-0003-1244-7654
> ;
pav:createdBy
<
http://orcid.org/0000-0003-0169-8159
> ;
pav:version
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}